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PRRT2-Associated Disorders: A Phenotypic Spectrum of Paroxysms

Bernardes, Catarina; Santos, Constança; Amaral , Joana; Palavra, Filipe; Pereira, Cristina; Ribeiro, Joana

PRRT2 is a presynaptic plasma membrane protein involved in neurotransmitter release. Disorders associated with PRRT2 pathogenic variants are a spectrum of clinical conditions with autosomal dominant inheritance, characterized by a paroxysmal presentation. The three main ones are self-limited infantile epilepsy, paroxysmal kinesigenic dyskinesia, and hemiplegic migraine, but other presentations have been reporte...

Date: 2025   |   Origin: SINAPSE
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